Details of Disease

General Information of Disease (ID: DISNLPC3)

• Disease Name: Temtamy syndrome
• Synonyms: intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum; craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; TEMTAMY syndrome; mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum; Dysmorphism, corpus callosum agenesis and colobomas; TEMTYS; Temtamy-Shalash syndrome; craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; temtamy syndrome
• Definition: Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISNLPC3: Temtamy syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009033
  MESH ID: C536959
  UMLS CUI: C1857512
  OMIM ID: 218340
  MedGen ID: 347474
  Orphanet ID: 1777
  SNOMED CT ID: 719947004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C12orf57	OT7V1MLD	Strong	Autosomal recessive	[1]

References

• [1] Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28.